A further family of Stromme syndrome carrying CENPF mutation.,American Journal of Medical Genetics Part A |
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A further family of Stromme syndrome carrying CENPF mutation.,American Journal of Medical Genetics Part A
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Stromme syndrome is a rare genetic disorder characterized by microcephaly, anterior ocular chamber anomalies, and "apple peel" type jejunal atresia. Here, we report a Stromme syndrome family with two affected siblings with a homozygous truncating frameshift mutation in CENPF. A 3-month-old girl was hospitalized due to prenatally diagnosed microcephaly, microphthalmia, and dysmorphological features. The history of a previous child with the same findings in addition to "apple peel" intestinal atresia had been noted. Regarding the clinical features of both affected siblings, a diagnosis of Stromme syndrome was established. Exome-sequencing of these two cases showed the homozygous mutation (c.5912_5913insA)/(p.T1974Nfs*9) in CENPF. While confirmation of this gene being responsible for Stromme syndrome was pending our results, Filges et al. reported that CENPF was indeed underlying the reason for Stromme syndrome. This is the second case report identifying CENPF mutation as the cause of Stromme syndrome.
中文翻译：
血栓综合征是一种罕见的遗传性疾病，其特征是小头畸形，眼前房异常和“苹果皮”型空肠闭锁。在这里，我们报告了一个Stromme综合征家族，其中有两个受影响的兄弟姐妹，在CENPF中出现了纯合的截断移码突变。一个3个月大的女孩因产前诊断的小头畸形，小眼症和畸形特征而住院。已经注意到除了“苹果皮”肠道闭锁外，先前孩子有相同发现的病史。关于两个受影响兄弟姐妹的临床特征，建立了斯特罗姆综合症的诊断。这两个案例的外显子组测序显示CENPF中存在纯合突变（c.5912_5913insA）/（p.T1974Nfs * 9）。尽管尚不清楚该基因是否与Stromme综合征有关，但我们的结果尚待确定，Filges等。报告指出，CENPF确实是导致Stromme综合征的根本原因。这是第二例病例报告，确定CENPF突变为Stromme综合征的病因。 |
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